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X-Linked Myotubular Myopathy (MTM1 or XLMTM) is a muscle disease characterised by early onset and the presence of uniformly small muscle fibers with centrally placed nuclei resembling fetal myotubes.
10 días laborables
Especificaciones
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Hisopo, sangre EDTA, sangre Heparina, Semen, Tejido |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Información específica de la prueba
X-Linked Myotubular Myopathy (MTM1 or XLMTM) is a muscle disease characterised by early onset and the presence of uniformly small muscle fibers with centrally placed nuclei resembling fetal myotubes. The disorder is caused by an X-linked recessive mutation to the gene MTM1.
The variant of the disorder analysed in this test is found in the Labrador Retriever. Related variants have been observed in the Rottweiler and Boykin Spaniel.
Características clínicas
Esta enfermedad se caracteriza por una atrofia muscular severa, ausencia de reflejos rotulianos y una mandíbula caída causada por la debilidad de los músculos de la masticación.
Información adicional
Referencias
Pubmed ID: 20682747
Omia ID: 1508